Jean-Christophe Novelli and his wife Michelle spoke today of how genomic testing for their son Valentino helped them find the right treatment and plan their future life.
During a visit to the newly refurbished East Genomic Laboratory Hub’s (GLH) main base at Cambridge University Hospitals (CUH), the couple recalled how a genomic test confirmed that their son Valentino had a childhood cancer, with a high chance of being successfully treated.
Michelle said: “When we first found out Valentino had a treatable form of neuroblastoma we were so relieved. The result gave us the hope we needed and it helped reassure us as well as the clinicians that he was on the most appropriate treatment for his specific type of cancer.”
Jean Christophe and Michelle’s third son, Valentino was born in September 2016. He was referred to CUH – the regional centre for cancer - from his local hospital at just six weeks old with suspected cancer.
After diagnosing neuroblastoma Valentino’s doctor, Dr Amos Burke, sent off a blood sample for genomic sequencing, in order to understand the severity of the cancer.
Dr Amos Burke said: “Genomic testing provides us with the ability to accurately identify subtypes of cancer and to prescribe the best treatment possible.
“It’s also incredibly important for families and patients to know that we are using the very best approaches to give the best chance of finding the most effective treatment for their situation.”
Jean-Christophe and Michelle were shown some of the new automated DNA extraction and sequencing equipment which enables the laboratory to process many more samples, across a larger range of genes, and more quickly than previously possible. This new technology can be applied for both solid and haematological malignancies in addition to rare disease.
Speaking on a zoom meeting with GLH staff, Jean-Christophe said:
“Thank you all so much for the work you do to help patients and their families. The care provided by all of you to help Valentino was so important to Michelle and me.
“Now you have done an amazing job getting the new East Genomic Laboratory Hub set up to process thousands more samples each month. And I know many of you were redeployed onto the front line to fight Covid as well. It’s been a really tough time, but it has been great meeting some of you today, and finding out how many more families will now be able to get better diagnosis through genomic testing.